Menkes Disease is a metabolic disorder that affects copper levels in the human body. Such a disorder leads to copper deficiency throughout the body. deficiency caused from Menkes Disease is more commonly found in males due to the fact that Menkes Disease is an x-linked recessive disorder; female can still develop the disease only if two defective alleles develop.
Characteristics
Diagnosed as an infant, Menkes Syndrome causes thin and rough hair, growth failure, and the breaking down of the nervous system. Menkes Syndrome symptoms may include the following:
Symptoms will appear at an early age, and are normally a result of not enough copper getting to the intestinal copper and secondary deficiency in the mitochondrial enzymes. In rare cases, Menkes symptoms begin later in childhood and are normally less severe. Slowed development could go on for two to three months, and developmental delay will be severe. Normally early loss of development skills will occur. In the gray matter of the brain there can be extensive neurodegeneration, or the breaking down of brain acitvity. Twisted arteries can cause split inner walls which leads to blocked or ruptured arteries. Weakened bones can cause breaks and fractures.
The cause of Menkes Disease is due to a mutation of the ATP7Agene which codes for the protein named Copper-transporting ATPase 1. The gene is located on the x-chromosome between the specific positions of 13.2 and 13.3 on the x-chromosome shown below.
The mutation to the ATP7A gene causes the improper distribution of copper to cells throughout the human body. Due to the disorder, large amounts of copper settle in some tissues such as the small intestine and kidneys while a significantly low amount of copper settles in the brain and other tissues of the body. A clear error in the distribution of the copper throughout the body is evident due to Menkes Disease. Such a poor distribution greatly affects the important copper-containing enzymes that are crucial to the human body with the structure and function of bone, skin, blood vessels, and the nervous system. The decreased copper supply can reduce the activity of such copper-containing enzymes.
Table of Contents
Background Information
Menkes Disease is a metabolic disorder that affects copper levels in the human body. Such a disorder leads to copper deficiency throughout the body. deficiency caused from Menkes Disease is more commonly found in males due to the fact that Menkes Disease is an x-linked recessive disorder; female can still develop the disease only if two defective alleles develop.Characteristics
Diagnosed as an infant, Menkes Syndrome causes thin and rough hair, growth failure, and the breaking down of the nervous system. Menkes Syndrome symptoms may include the following:
Symptoms will appear at an early age, and are normally a result of not enough copper getting to the intestinal copper and secondary deficiency in the mitochondrial enzymes. In rare cases, Menkes symptoms begin later in childhood and are normally less severe. Slowed development could go on for two to three months, and developmental delay will be severe. Normally early loss of development skills will occur. In the gray matter of the brain there can be extensive neurodegeneration, or the breaking down of brain acitvity. Twisted arteries can cause split inner walls which leads to blocked or ruptured arteries. Weakened bones can cause breaks and fractures.
http://www.medixl.com/2010/12/muscle-strength-and-tone.html
This video shows some test you can have performed to see if your child has Menkes Syndrome.
Menkes Disease on the Molecular Level
The cause of Menkes Disease is due to a mutation of the ATP7A gene which codes for the protein named Copper-transporting ATPase 1. The gene is located on the x-chromosome between the specific positions of 13.2 and 13.3 on the x-chromosome shown below.
The mutation to the ATP7A gene causes the improper distribution of copper to cells throughout the human body. Due to the disorder, large amounts of copper settle in some tissues such as the small intestine and kidneys while a significantly low amount of copper settles in the brain and other tissues of the body. A clear error in the distribution of the copper throughout the body is evident due to Menkes Disease. Such a poor distribution greatly affects the important copper-containing enzymes that are crucial to the human body with the structure and function of bone, skin, blood vessels, and the nervous system. The decreased copper supply can reduce the activity of such copper-containing enzymes.
Works Cited
http://en.wikipedia.org/wiki/Menkes_disease